Author of

• 17629

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  P2.03b - Poster Session with Presenters Present (ID 465)

  • Event: WCLC 2016
  • Type: Poster Presenters Present
  • Track: Advanced NSCLC
  • Presentations: 1
  • Moderators:
  • Coordinates: 12/06/2016, 14:30 - 15:45, Hall B (Poster Area)

  • 17655

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    P2.03b-026 - Next-Generation Sequencing for Molecular Diagnosis of Tumour Specimens from Patients with Advanced Lung Adenocarcinoma (ID 5243)

    14:30 - 14:30  |  Author(s): J. Reis
    • Abstract

    Background:
    Molecular driven therapy of advanced lung adenocarcinoma implies the detection of specific genetic alterations predictive of response to agents targeting specific pathways. Next Generation Sequencing provides simultaneous analysis of hundreds of genes in samples with low DNA quantity with a fast, sensitive technology, even in the presence of low frequency alleles.
    
    Methods:
    In this study, the enrichment strategy used was the Ion Ampliseq Colon and Lung panel for tumour biopsies. All amplified products were used to prepare libraries and sequenced using the Ion PGM or S5xl system. The QuantStudio 3D Digital PCR System was used to confirm selected results. 92 patients with advanced lung adenocarcinoma previously tested for EGFR mutation by PCR and for ALK by FISH were included. Significant genetic alterations obtained by NGS are described and compared with those identified by standard techniques.
    
    Results:
    NGS was applied to 92 diagnostic samples, corresponding to 63 (68.5%) wild type (WT) patients, 21 (22.8%) with EGFR mutations and 8 (8.7%) with ALK-EML4 translocation. The Ion Torrent PGM confirmed the presence of the EGFR mutation in 20 (95.2%) patients and detected a new case with p.L858R. Among patients classified as WT, 18 had a KRAS mutation, 3 BRAF V600E and 1 STK11; among ALK patients, 2 had a KRAS mutation. Other significant concurrent genetic alterations were found: 2 patients with EGFR and PIK3CA mutations, 2 with EGFR and KRAS and sporadic cases with STK11 and TP53. Only 40 patients remained classified as WT (43,5%).
    
    Conclusion:
    NGS is useful for detection of actionable mutations in small tumour biopsies and cytology specimens of lung adenocarcinoma. It allows the identification of more candidates to targeted therapies and the detection of concurrent mutations that can impact prognosis and treatment efficacy.